Neuronal Intranuclear Inclusion Disease: A Confirmed Case Report and Analysis of MRI Characteristics in Three Typical Cases

This case report enhances our understanding of NIID's diverse clinical phenotypes and the critical role of advanced MRI and genetic testing in its diagnosis. The core imaging feature of NIID is the high signal along the corticospinal junction on MRI, which, combined with NOTCH2NLC gene testing, can significantly enhance the early recognition and diagnosis of NIID. Therefore, this study deepens our understanding of the complex clinical phenotypes and imaging characteristics of NIID, providing crucial guidance for clinical practice.